Table 1.
MicroRNAs directly involved in autism (*: see explanation in the following column).
| Study | N (Case/Control) | Design | Findings | |
|---|---|---|---|---|
| Up-Regulated miRNA | Down-Regulated miRNA | |||
| Abu-Elneel et al. (2008) [70] | 26 (13/13) | Measure of the expression level of 466 human miRNAs from postmortem cerebellar tissue by multiplex real-time PCR, with 377 miRNAs detected and used for further analysis | miR-106a, miR-106b, miR-140, miR-146b, miR-181d, miR-193b, miR-320a, miR-381, miR-432, miR-539, miR-550, miR-652 | miR-7, miR-15a, miR-15b, miR-21, miR-23a, miR-27a, miR-93, miR-95, miR-128, miR-129, miR-132, miR-148b, miR-212, miR-431, miR-484, miR-598 |
| Sarachana et al. (2010) [71] | 14 (5/9) | Lymphoblasts derived from peripheral lymphocytes were obtained; miRNA expression profiling performed by high-throughput miRNA microarray analysis. Differentially expressed miRNAs confirmed by qRT-PCR analysis, putative target genes of two of the confirmed miRNA validated by knockdown and overexpression of the respective miRNAs | miR-16-2, miR-106b, miR-132, miR-133b, miR-136, miR-139, miR-148b, miR-153, miR-182, miR-189, miR-190, miR-199b, miR-211, miR-219, miR-326, miR-367, miR-455, miR-495, miR-518a, miR-520b | miR-23a, miR-23b, miR-25, miR-29b, miR-30e, miR-93, miR-103, miR-107, miR-185, miR-186, miR-191, miR-194, miR-195, miR-205, miR-342, miR-346, miR-376a-AS, miR-451, miR-519c, miR-524 |
| Talebizadeh et al. (2008) [72] | 12 (6/6) | Six subject with Autism Spectrum Disorders (ASD) (3 males, aged 5, 12, and 14 years, and 3 females, aged 6, 11, and 13 years), 6 age- and gender-matched TD controls. Lymphoblastoid cell lines, quantitative PCR, | miR-23a, miR-23b, miR-132, miR-146a, miR-146b, miR-663 | miR-92, miR-320, miR-363 |
| Mundalil Vasu et al. (2014) [73] | 110 (55/55) | 55 ASD (48 males, 6 females, aged 11.29 ± 5.45 years), 55 TD controls (41 males, 14 females, aged 11.3 ± 2.37 years). RNA extracted from serum, mature miRNAs selectively converted into cDNA. The expression of 125 mature miRNAs was compared between pooled control and ASD samples. The differential expression of 14 miRNAs further validated by SYBR Green quantitative PCR of individual samples. Target genes and pathways of miRNAs predicted by DIANA mirPath software | miR-19b-3p, miR-27a-3p, miR-101-3p, miR-106-5p, miR-130a-3p, miR-195b-5p | miR-151a-3p, miR-181b-5p, miR-320a, miR-328, miR-433, miR-489, miR-572, miR-663a |
| Popov et al. (2012) [74] | 55 (30/25) | Thirty ASD (24 males, 6 females, aged 3–20), 25 TD controls (20 males, 5 females, aged 3–20 years). Whole blood collection, analysis of gene expression changes applying LC expression profiling service, using pooled whole blood-derived total RNA samples | miR-486-3p | |
| Seno et al. (2011) [75] | 42 (20/22) | 20 severe ASD (13 males and 7 females), 22 unaffected siblings (19 males and 3 females). Lymphoblastoid cell lines, RNA was extracted and assayed using Illumina gene and miRNA expression arrays. Control quality in BeadStudio (Illumina) | miR-10a, miR-30a, miR-181a, miR-181b, miR-181c, miR-199b-5p, miR-338-3p, miR-486-3p, miR-486-5p, miR-500, miR-502-3p, miR-548 | miR-199a-5p, miR-455-3p, miR-577, miR-656 |
| Mor et al. (2015) [76] | 24 (12/12) | Brain tissue samples taken from postmortem Brodmann’s area 10 | miR-7-5p, miR-19a-3p, miR-19b-3p, miR-21-3p, miR-21-5p, miR-142-3p, miR-142-5p, miR-144-3p, miR-146a-5p, miR-155-5p, miR-219-5p, miR-338-5p, miR-379-5p, miR-451a, miR-494, miR-3168 | miR-34a-5p, miR-92b-3p, miR-211-5p, miR-3960 |
| Ander et al. (2015) [77] | 18 (10/8) | Brain tissue samples taken from postmortem Brodmann’s areas 22, 41, 42 | miR-664-3p, miR-4709-3p, miR-4753-5p | miR-1, miR-297, miR-4742-3p |
| Wu et al. (2016) [78] | 56 (28/28) | Tissue samples taken from postmortem cerebellar cortex, Brodmann area 9 | miR-10a-5p, miR-18b-5p, miR-20b-5p, miR-21-3p, miR-23a-3p, miR-107, miR-129-2-3p, miR-130b-5p, miR-148a-3p, miR-155-5p, miR-218-2-3p, miR-221-3p, miR-223-3p, miR-335-3p, miR-363-3p, miR-424-3p, miR-424-5p, miR-425-3p, miR-449b-5p, miR-450b-5p, miR-484, miR-629-5p, miR-651-5p, miR-708-5p, miR-766-3p, miR-874-3p, miR-887-3p, miR-940, miR-1277-3p, miR-3938, miR-2277-5p, let-7g-3p | miR-204-3p, miR-491-5p, miR-619-5p, miR-3687, miR-5096 |
| Huang et al. (2015) [79] | 40 (20/20) | Peripheral blood sample taken, microarray (5 ASD/5 controls), and quantitative Real-Time PCR (15 ASD/15 controls) | miR-34b-3p, miR-34c-3p, miR-483-5p, miR-494, miR-564, miR-642a-3p, miR-574-5p, miR-575, miR-921, miR-1246, miR-1249, miR-1273c, miR-4270, miR-4299, miR-4436a, miR-4443, miR-4516, miR-4669, miR-4721, miR-4728-5p, miR-4788, miR-5739, miR-6086, miR-6125 | miR-15a-5p, miR-15b-5p, miR-16-5p, miR-19b-3p, miR-20a-5p, miR-92a-3p, miR-103a-3p, miR-195-5p, miR-451a, miR-574-3p, miR-940, miR-1228-3p, miR-3613-3p, miR-3935, miR-4436b-5p, miR-4665-5p, miR-4700-3p, let-7a-5p, let-7d-5p, let-7f-5p |
| Toma et al. (2015) [80] | 1309 (636/673) | Genomic DNA isolated from blood lymphocytes, or from saliva | miR-133b/miR-206 cluster; pooled analysis: miR-133b/miR-206 and miR-17/miR-18a/miR-19a/miR-20a/miR- 19b-1/miR92a-1. |
N/A |
| Hicks et al. (2016) [81] | 45 (24/21) | Salivary samples | miR-7-5p, miR-28-5p, miR-127-3p, miR-140-3p, miR-191-5p, miR-218-5p, miR-335-3p, miR-628-5p, miR-2467-5p, miR-3529-3p | miR-23a-3p, miR-27a-3p, miR-30e-5p, miR-32-5p |
| Nguyen et al. (2016) [82] | 14 (8/6) | Samples taken from olfactory mucosal stem cells and skin fibroblasts or Peripheral Blood Mononuclear Cells. Measured through microarray and quantitative Real-Time PCR validation | miR-146a | miR-221, miR-654-5p, miR-656 |
| Kichukova et al. (2017) [83] | 60 (30/30) | Blood samples. Quantitative Real-Time PCR validation | miR-18b-3p, miR-106b-5p, miR-142-3p, miR-210-5p, miR-365a-3p, miR-374b-5p, miR-619-5p, miR-664a-3p, miR-3620-3p, miR-4489, miR-8052 | hsa-let-7i-3p, miR -15a-5p, miR -20b-3p, miR -29c-5p, miR -96-5p, miR -145-5p, miR -183-5p, miR -193b-3p, miR -197-5p, miR-199a-5p, miR -301a-3p, miR -328-3p, miR -424-5p, miR -486-3p, miR -487b-3p, miR -500a-5p, miR -504-5p, miR -576-5p, miR -587-3p, miR-589-3p, miR -664b-3p, miR -671-3p, miR -3064-5p, miR -3135a, miR -3674, miR -3687, miR-3909, miR -6799-3p, miR -6849-3p |
| Jyonouchi et al. (2017) [84] | 96 (69/27) | Peripheral blood monocytes samples, miRNA expression determined by high-throughput sequencing | hsa-let-7a-1, hsa-let-7a-2, hsa-let-7a-3, hsa-let-7f-1, hsa-let-7f-2, hsa-let-7g, hsa-let-7i, miR-17, miR-26a-2, miR-30b, miR-30c-1, miR-30c-2, miR-98, miR-106b, miR-130a, miR-148a, miR-148b, miR-150, miR-186, miR-301a, miR-374b, miR-494, miR-1248, miR-3607, miR-3609 | hsa-let-7b, miR-15a, miR-15b, miR-16-1, miR-16-2, miR-18a, miR-19a, miR-19b-1, miR-19b-2, miR-20a, miR-21, miR-27a, miR-27b, miR-29a, miR-29b-1, miR-29b-2, miR-29c, miR-30e, miR-93, miR-101-1, miR-101-2, miR-103a-1, miR-103a-2, miR-107, miR-126, miR-142, miR-145, miR-146a, miR-151a, miR-181a-1, miR-181a-2, miR-199b, miR-221, miR-222, miR-320a, miR-376c, miR-409, miR-423, miR-484, miR-625, miR-4433b, miR-5701-1, miR-5701-2 |
| Pagan et al. (2017) [85] | 517 (239/278) * | Post-mortem pineal glands (melatonin) in 9 patients and 22 controls; gut samples (serotonin) in 11 patients and 13 controls; blood platelets from 239 individuals with ASD, their first-degree relatives and 278 controls |
Plasmatic and pineal miR-451 | N/A |
| Nguyen et al. (2018) [86] | 11 (5/6) | Post-mortem analysis of temporal lobe in ASD children and controls, miRNA expression performed using Taqman assay | miR-146a | N/A |
| Yu et al. (2018) [87] | 43 (20/23) | Serum samples, quantitative reverse transcription-PCR to examine miRNAs | miR-486-3p, miR-557 | N/A |
| Williams et al. (2018) [88] | 128 (48/80) * | Blood samples from 48 ASD and 80 parents | miR-873-5p | N/A |